IDH1 and IDH2 mutated myeloid neoplasms: mutational pattern, clonal hierarchy and the role in AML transformation - PubMed
4 hours ago
- #IDH mutations
- #myeloid neoplasms
- #AML transformation
- IDH1 and IDH2 mutations are recurrent in myeloid neoplasms (MN) and targeted by small molecule inhibitors.
- Study analyzed 12,071 patients with AML (28% IDH-mutated), MDS (6.3% IDH-mutated), and CMML (5.2% IDH-mutated).
- IDH mutations were enriched in high-blast subgroups but rare in MDS-biTP53.
- Co-mutational patterns varied by age, MN type, and mutation hotspots.
- IDH mutations often appeared in founder clones but not always.
- IDH1 mutations were more frequent in secondary AML (9.5%) vs. MDS (1.8%) and CMML (0.8%), suggesting acquisition during AML transformation.
- Findings may guide sequential molecular testing and targeted therapy decisions.